Publications by authors named "S Blesson"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Sophia Blesson

Cell· December 2025

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Sophie Blesson

J Med Genet· November 2025

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Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
A Civit, L Kerbellec, D Laurenceau, D C Ung, M P Moizard, S Blesson

Am J Med Genet A· November 2025

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Safety, tolerability and pharmacokinetics of DNDI-6148, a novel agent for leishmaniasis: A randomized, controlled, single ascending dose study in healthy participants.
Jean-Yves Gillon, Sophie Delhomme, Delphine Launay, Séverine Blesson, Stéphanie Braillard

Br J Clin Pharmacol· November 2025

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Sophia Blesson

medRxiv· August 2024

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